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Lactate peak in muscle disclosed by magnetic resonance spectroscopy in a patient with CPEO-plus syndrome

A 25-year-old man complained of progressive diplopia and limb weakness for 3 years. Mitochondrial myopathy was suspected according to clinical presentation, elevated serum lactate concentration, and muscle histopathology. However, next-generation mtDNA sequencing (mtDNA NGS) of the blood only reveal...

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Autores principales: Fan, Sung-Pin, Hsueh, Hsueh-Wen, Huang, Hsin-Chieh, Chang, Koping, Lee, Ni-Chung, Huang, Pei-Hsin, Yang, Chih-Chao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8327329/
https://www.ncbi.nlm.nih.gov/pubmed/34377843
http://dx.doi.org/10.1016/j.ensci.2021.100360
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author Fan, Sung-Pin
Hsueh, Hsueh-Wen
Huang, Hsin-Chieh
Chang, Koping
Lee, Ni-Chung
Huang, Pei-Hsin
Yang, Chih-Chao
author_facet Fan, Sung-Pin
Hsueh, Hsueh-Wen
Huang, Hsin-Chieh
Chang, Koping
Lee, Ni-Chung
Huang, Pei-Hsin
Yang, Chih-Chao
author_sort Fan, Sung-Pin
collection PubMed
description A 25-year-old man complained of progressive diplopia and limb weakness for 3 years. Mitochondrial myopathy was suspected according to clinical presentation, elevated serum lactate concentration, and muscle histopathology. However, next-generation mtDNA sequencing (mtDNA NGS) of the blood only revealed a likely benign variant in the MT-CO1 gene (m.6510G > A). An mtDNA NGS study on the muscle sample revealed a large mtDNA deletion (m.5788–m.16071). The patient was diagnosed as having CPEO-plus syndrome related to the large mtDNA deletion. Notably, magnetic resonance spectroscopy revealed a doublet peak at 1–2 ppm in his edematous right vastus lateralis, which indicated lactate accumulation. Thus, muscle imaging and appropriate genetic tests facilitated the diagnosis of mitochondrial myopathy.
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spelling pubmed-83273292021-08-09 Lactate peak in muscle disclosed by magnetic resonance spectroscopy in a patient with CPEO-plus syndrome Fan, Sung-Pin Hsueh, Hsueh-Wen Huang, Hsin-Chieh Chang, Koping Lee, Ni-Chung Huang, Pei-Hsin Yang, Chih-Chao eNeurologicalSci Case Report A 25-year-old man complained of progressive diplopia and limb weakness for 3 years. Mitochondrial myopathy was suspected according to clinical presentation, elevated serum lactate concentration, and muscle histopathology. However, next-generation mtDNA sequencing (mtDNA NGS) of the blood only revealed a likely benign variant in the MT-CO1 gene (m.6510G > A). An mtDNA NGS study on the muscle sample revealed a large mtDNA deletion (m.5788–m.16071). The patient was diagnosed as having CPEO-plus syndrome related to the large mtDNA deletion. Notably, magnetic resonance spectroscopy revealed a doublet peak at 1–2 ppm in his edematous right vastus lateralis, which indicated lactate accumulation. Thus, muscle imaging and appropriate genetic tests facilitated the diagnosis of mitochondrial myopathy. Elsevier 2021-07-23 /pmc/articles/PMC8327329/ /pubmed/34377843 http://dx.doi.org/10.1016/j.ensci.2021.100360 Text en © 2021 The Authors. Published by Elsevier B.V. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Fan, Sung-Pin
Hsueh, Hsueh-Wen
Huang, Hsin-Chieh
Chang, Koping
Lee, Ni-Chung
Huang, Pei-Hsin
Yang, Chih-Chao
Lactate peak in muscle disclosed by magnetic resonance spectroscopy in a patient with CPEO-plus syndrome
title Lactate peak in muscle disclosed by magnetic resonance spectroscopy in a patient with CPEO-plus syndrome
title_full Lactate peak in muscle disclosed by magnetic resonance spectroscopy in a patient with CPEO-plus syndrome
title_fullStr Lactate peak in muscle disclosed by magnetic resonance spectroscopy in a patient with CPEO-plus syndrome
title_full_unstemmed Lactate peak in muscle disclosed by magnetic resonance spectroscopy in a patient with CPEO-plus syndrome
title_short Lactate peak in muscle disclosed by magnetic resonance spectroscopy in a patient with CPEO-plus syndrome
title_sort lactate peak in muscle disclosed by magnetic resonance spectroscopy in a patient with cpeo-plus syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8327329/
https://www.ncbi.nlm.nih.gov/pubmed/34377843
http://dx.doi.org/10.1016/j.ensci.2021.100360
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